印度北部人群中rs2071287变异与精神分裂症易感性关联的遗传学证据。
Genetic evidence for association of variant rs2071287 with schizophrenia susceptibility in the North Indian population.
作者信息
Priya Indu, Arora Manu, Singh Hemender, Sharma Isar, Mahajan Ritu, Kapoor Nisha
机构信息
School of Biotechnology, University of Jammu, Jammu and Kashmir, India.
School of Biotechnology, Shri Mata Vaishno Devi University, Katra, Jammu and Kashmir, India.
出版信息
Indian J Psychiatry. 2022 Nov-Dec;64(6):567-571. doi: 10.4103/indianjpsychiatry.indianjpsychiatry_91_22. Epub 2022 Nov 30.
BACKGROUND
Neurogenic locus notch homolog 4 () regulates signaling pathways associated with neuronal maturation, a process involved in the development and patterning of the central nervous system. The gene has also been identified as a possible susceptibility gene for schizophrenia (SCZ).
AIM
The study aimed to determine the association of polymorphisms with the risk of SCZ in the North Indian population of the Jammu region.
METHODS
The single nucleotide polymorphism genotyping for variant rs2071287 was done by Sanger's sequencing method, and the other variant rs3131296 was done by TaqMan assay method for 207 SCZ cases and 304 healthy controls of North Indian origin.
RESULTS
This association study suggested that the rs2071287 was found to be significantly associated with SCZ. Moreover, the GG genotype of rs2071287 was observed to be associated with a higher risk for SCZ (-value = 6.45 × 10 ; OR = 1.71; 95% CI, 1.31-2.24).
CONCLUSION
To establish the potential biomarker role of this variant, large-scale association analyses in other populations is required.
背景
神经源性位点Notch同源物4（）调节与神经元成熟相关的信号通路，这一过程参与中枢神经系统的发育和模式形成。该基因也被确定为精神分裂症（SCZ）的一个可能的易感基因。
目的
本研究旨在确定印度查谟地区北印度人群中基因多态性与SCZ风险的关联。
方法
采用桑格测序法对207例SCZ病例和304例北印度裔健康对照进行基因变体rs2071287的单核苷酸多态性基因分型，采用TaqMan检测法对另一个变体rs3131296进行基因分型。
结果
该关联研究表明，rs2071287与SCZ显著相关。此外，观察到rs2071287的GG基因型与SCZ的较高风险相关（-值 = 6.45 × 10；OR = 1.71；95% CI，1.31 - 2.24）。
结论
为确定该变体的潜在生物标志物作用，需要在其他人群中进行大规模关联分析。
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